John Nguyen

TL;DR: Target resequencing of 644 individuals with epileptic encephalopathies led to the identification of six SLC6A1 mutations in seven individuals, all of whom have epilepsy with myoclonic-atonic seizures (MAE), accounting for ~4% of unsolved MAE cases.

TL;DR: Evidence is provided that five of these variants promote inclusion of a "poison" exon that leads to reduced amounts of full-length SCN1A protein, likely to be broadly relevant to human disease.

TL;DR: In this article, targeted resequencing of 644 individuals with epileptic encephalopathies led to the identification of six SLC6A1 mutations in seven individuals, all of whom have epilepsy with myoclonic-atonic seizures (MAE).

TL;DR: A striking RORB phenotype of overlap of photosensitive generalized and occipital epilepsy in both individuals and families is shown, the first report of a gene associated with this overlap of epilepsy syndromes.

TL;DR: The most common seizure type was generalized tonic-clonic; focal, atypical absence, tonic, drop attacks, and myoclonic seizures occurred frequently as mentioned in this paper.